Canonical Allele Identifier: CA460603583

Gene: PRKDC

Linked Data

• MyVariant Identifiers: chr8:g.48701507_48701508insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47788946_47788947insA , CM000670.2:g.47788946_47788947insA	GRCh38
NC_000008.10:g.48701507_48701508insA , CM000670.1:g.48701507_48701508insA	GRCh37
NC_000008.9:g.48864060_48864061insA	NCBI36
NG_023435.1:g.176237_176238insT , LRG_162:g.176237_176238insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1434_1435insT
ENST00000697603.1:c.3538_3539insT	ENSP00000513358.1:p.Lys1180IlefsTer9
ENST00000314191.7:c.10861_10862insT MANE Select	ENSP00000313420.3:p.Lys3621IlefsTer9
ENST00000314191.6:c.10861_10862insT	ENSP00000313420.3:p.Lys3621IlefsTer9
ENST00000338368.7:c.10861_10862insT	ENSP00000345182.4:p.Lys3621IlefsTer9
NM_001081640.1:c.10861_10862insT	NP_001075109.1:p.Lys3621IlefsTer9
NM_006904.6:c.10861_10862insT , LRG_162t1:c.10861_10862insT	NP_008835.5:p.Lys3621IlefsTer9
XM_011517567.1:c.10864_10865insT	XP_011515869.1:p.Lys3622IlefsTer9
XM_011517568.1:c.10864_10865insT	XP_011515870.1:p.Lys3622IlefsTer9
NM_001081640.2:c.10861_10862insT	NP_001075109.1:p.Lys3621IlefsTer9
NM_006904.7:c.10861_10862insT MANE Select	NP_008835.5:p.Lys3621IlefsTer9